RGD:150511201 Rat Genome Database

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Variant: RGD:150511201 -  Homo sapiens

RGD ID: 150511201
RS ID: rs2305594
ClinVar ID: CV1213828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB3GAP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 135,890,608
GRCh38 2 135,133,038
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001172435.2:c.1326+54G>C
NM_012233.3:c.1326+54G>C
NG_016972.1:g.85774G>C
NC_000002.12:g.135133038G>C
More... 		06/26/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RAB3GAP1
Accession:XM_011510823
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:NM_001172435
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:NM_012233
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_047443732
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XM_011510825
Location:INTRON

Gene Symbol:RAB3GAP1
Accession:XR_001738674
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001597897 CLINVAR
dbSNP (RS) rs2305594 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RAB3GAP1 CLINVAR
OMIM 602536 CLINVAR